Phenotype: abnormal femur morphology

Definition any structural anomaly of the long bone of the thigh

Synonyms femur dysplasia
Related
Synonyms
  • Bowing of thighbone at birth, straightening with time
  • Bowing of thighbone at birth, straightening with time
  • Distal femoral bowing
  • Distal femoral bowing
  • Femoral bowing present at birth, straightening with time
  • Hyperplasia of the femoral trochanters
  • Hyperplastic femoral trochanters
  • Hypoplasia of the lesser trochanter
  • Lateral femoral bowing
  • Lesser trochanter hypoplasia
  • abnormal femur compact bone thickness
  • abnormal femur cortical bone morphology thickness
  • abnormal femur dense bone thickness
  • abnormal femur lamellar bone thickness
  • abnormal trochanter morphology
  • bent femur
  • bowed femur
  • decreased endosteal diameter of femur
  • decreased femur bone marrow cavity diameter
  • decreased femur compact bone thickness
  • decreased femur cortical bone morphology thickness
  • decreased femur dense bone thickness
  • decreased femur lamellar bone thickness
  • decreased femur medullary cavity diameter
  • decreased inner diameter of femur
  • decreased internal diameter of femur
  • increased diameter of femur
  • increased endosteal diameter of femur
  • increased femur bone marrow cavity diameter
  • increased femur compact bone thickness
  • increased femur cortical bone morphology thickness
  • increased femur dense bone thickness
  • increased femur lamellar bone thickness
  • increased femur medullary cavity diameter
  • increased inner diameter of femur
  • increased internal diameter of femur
  • increased outer diameter of femur
  • increased periosteal diameter of femur
  • reduced endosteal diameter of femur
  • reduced femur cortical bone morphology thickness
  • reduced femur dense bone thickness
  • reduced femur lamellar bone thickness
  • reduced inner diameter of femur
  • thick femur
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Phenotype associations stats

0.37% of tested genes with null mutations on a B6N genetic background have a phenotype association to abnormal femur morphology (14/3757)

0.16% females (6/3733) 0.37% males (14/3751)

Gene variants with abnormal femur morphology

Total number of significant genotype-phenotype associations: 20

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Timp1
Timp1tm1b(EUCOMM)Hmgu
HEM Female Male postnatal abnormal femur morphology X-ray | Femur MRC Harwell | IMPC 0.0
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal femur morphology X-ray | Femur WTSI | IMPC 4.69E-17
Col9a2
Col9a2tm1b(EUCOMM)Wtsi
HOM Female Male postnatal abnormal femur morphology X-ray | Femur MRC Harwell | IMPC 1.84E-13
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Female Male postnatal abnormal femur morphology X-ray | Femur MRC Harwell | IMPC 1.84E-13
Cyp27b1
Cyp27b1tm1b(EUCOMM)Hmgu
HOM Female Male postnatal abnormal femur morphology X-ray | Femur TCP | IMPC 2.35E-12
Phex
Phexnot yet available
HOM Male postnatal abnormal femur morphology X-Ray | Femur HMGU | EuroPhenome 5.74E-11
Mysm1
Mysm1tm1a(KOMP)Wtsi
HOM Female Male postnatal abnormal femur morphology X-Ray | Femur WTSI | EuroPhenome 8.95E-11
Cenpj
Cenpjtm1a(EUCOMM)Wtsi
HOM Male postnatal abnormal femur morphology X-ray | Shape of femur WTSI | EuroPhenome 2.85E-6
Bnip2
Bnip2tm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal femur morphology X-ray | Femur WTSI | IMPC 6.27E-6
Slc38a2
Slc38a2tm1a(KOMP)Wtsi
HET Male postnatal abnormal femur morphology X-ray | Femur WTSI | IMPC 6.27E-6
Col1a2
Col1a2tm1b(EUCOMM)Wtsi
HOM Male postnatal abnormal femur morphology X-ray | Femur BCM | IMPC 1.47E-5
Ap4e1
Ap4e1tm1a(KOMP)Wtsi
HOM Male postnatal abnormal femur morphology X-ray | Shape of femur WTSI | EuroPhenome 3.31E-5
Ogfod1
Ogfod1tm1a(KOMP)Wtsi
HOM Male postnatal abnormal femur morphology X-ray | Shape of femur WTSI | EuroPhenome 8.57E-5
Src
Srctm2a(EUCOMM)Wtsi
HET Male postnatal abnormal femur morphology X-ray | Shape of femur WTSI | EuroPhenome 8.57E-5

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